Primary Evidence Review
A selected evidence review with separate family, case and cell-model scopes
Related long-form Word draft: its topic title was checked, but its scientific claims and bibliography were not revalidated in this batch. The concise HTML below has its own checked primary-evidence scope.
Source file: Laminopathies_ Nuclear Envelope Diseases Review.docx | Match confidence: high
Selected LMNA family/case studies establish specific genetic findings, while defined cell models test nuclear phenotypes. These evidence types inform different questions and do not constitute a complete clinical overview or one proven explanation of all nuclear-envelope disease. Bonne et al. (1999); Eriksson et al. (2003); Lammerding et al. (2004).
This HTML is a concise review of the selected primary evidence linked below. The related Word draft has a broader scope and has not been scientifically revalidated in this batch.
The retained evidence includes familial co-segregation of LMNA variants, a recurrent classical-HGPS splice consequence, and mechanical/signaling phenotypes after complete lamin-A/C loss in mouse fibroblasts. It does not cover every nuclear-envelope gene or clinical syndrome. Bonne et al. (1999); Eriksson et al. (2003); Lammerding et al. (2004).
Bonne et al. reported four LMNA variants that co-segregated with autosomal-dominant Emery-Dreifuss muscular dystrophy in five families. This primary-abstract result supports a defined familial genetic finding; full pedigree, penetrance and protocol appraisal were not available. Bonne et al. (1999).
Turgay et al. resolved a lamin filament meshwork in prepared mouse embryonic fibroblast nuclei. Eibauer et al. imaged NPC architecture in Xenopus oocyte nuclear envelopes. Neither structural experiment by itself establishes a clinical consequence for every envelope-protein variant. Turgay et al. (2017); Eibauer et al. (2015).
Eriksson et al. reported G608G in 18 of 20 classical HGPS cases, cryptic splicing and a resulting 50-amino-acid deletion. Patient fibroblasts showed nuclear membrane abnormalities by immunofluorescence. Only these primary-abstract findings are retained; they do not exhaust progeroid genotypes or establish a normal-aging equivalence. Eriksson et al. (2003).
The null-cell study did not explain strain-associated viability loss solely by observed rupture. Familial variants, patient fibroblast morphology and complete mouse-cell lamin loss are different comparisons; they should not be collapsed into a deterministic path from every variant to every clinical phenotype. Lammerding et al. (2004); Bonne et al. (1999); Eriksson et al. (2003).
Living-yeast reporter experiments found gradual size-dependent passive NPC permeability. Prepared-lamina structural imaging measures a different property. The selected findings do not demonstrate that every lamina-related disease has the same transport defect or that all nuclear-envelope disorders share one mechanism. Timney et al. (2016); Turgay et al. (2017).
The selected family/case and cell-model papers do not validate a diagnostic panel, screening threshold or treatment effectiveness in this review. Such inherited clinical recommendations were withdrawn rather than inferred from structural or culture findings. Bonne et al. (1999); Eriksson et al. (2003); Lammerding et al. (2004).
Petrini and colleagues reported increased Src–lamin A/C co-distribution and altered donor-fluorescence lifetime in skin fibroblasts from two laminopathic patients. The association adds a bounded molecular readout to the older genetics and null-cell comparisons. Antibody-labeled proximity and co-distribution do not independently establish a shared force-transmission defect, a diagnostic threshold or patient treatment benefit. Petrini et al. (2024).
Reassessed 12 October 2026. Recent-source access is stated above; complete supplementary material and raw data were not reanalysed. The archived Word draft remains a separate, unreconciled document.